Kmt2a Gene Summary [Mouse]
Enables DNA binding activity; chromatin binding activity; and histone H3K4 methyltransferase activity. Involved in circadian regulation of gene expression; definitive hemopoiesis; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including peptidyl-lysine monomethylation; spleen development; and visual learning. Located in nucleus. Is expressed in several structures, including extraembryonic component; genitourinary system; nervous system; retina; and trunk mesenchyme. Used to study acute lymphoblastic leukemia; acute myeloid leukemia; and leukemia. Human ortholog(s) of this gene implicated in acute myeloid leukemia; cervical cancer; myelofibrosis; and non-Hodgkin lymphoma. Orthologous to human KMT2A (lysine methyltransferase 2A). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Kmt2a |
| Official Name | lysine (K)-specific methyltransferase 2A [Source:MGI Symbol;Acc:MGI:96995] |
| Ensembl ID | ENSMUSG00000002028 |
| Bio databases IDs | |
| Aliases | lysine (K)-specific methyltransferase 2A |
| Synonyms | 6430520K01, ALL-1, CXXC7, FLJ11783, GAS7, HRX, HTRX, HTRX1, lysine (K)-specific methyltransferase 2A, lysine methyltransferase 2A, mKIAA4050, MLL, MLL1, MLL1A, TRX1, WDSTS |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Kmt2a often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PHD zinc finger
- F/Y rich C-terminus
- SET binding domain
- transcription activation domain
- transcription factor binding
- chromatin binding
- enzyme
- Win motif
- Bromodomain
- S-adenosylmethionine-dependent methyltransferase
- identical protein binding
- N2 domain
- protein methyltransferase
- FYRN domain
- histone lysine N-methyltransferase activity (H3-K4 specific)
- zinc ion binding
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- SET domain
- DNA methyltransferase domain
- PHD-zinc-finger like domain
- histone binding
- activation domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- FYRC domain
- Cysteine-rich motif following a subset of SET domains
- Cbf1/rbp-jk interaction domain
- protein binding
- DNA binding
- n-terminal subdomain
- unmethylated CpG binding
- R2 domain
- transcription repression domain
- PHD-like zinc-binding domain
- S-methyltransferase
- CXXC motif
- basic cysteine basic domain
- AT hook domain
- subnuclear localization domain
- protein homodimerization
- PHD finger superfamily
- zinc finger domain
- CXXC zinc finger domain
- CBP binding domain
- F/Y-rich N-terminus
- DNA methyltransferase homology domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- depressive disorder
- neoplasia
- schizophrenia
- neuroticism
- Wiedemann-Steiner syndrome
- urothelial bladder carcinoma
- transitional cell bladder cancer
- bipolar disorder
- hereditary disorder
- acute lymphoblastic leukemia
phenotypes
- abnormal retina morphology
- decreased bone mineral density
- decreased total body fat amount
- increased lean body mass
- preweaning lethality complete penetrance
- abnormal arcus anterior morphology
- abnormal behavior
- abnormal blood cell morphology/development
- abnormal cervical atlas morphology
- abnormal cervical axis morphology
- abnormal cervical vertebrae morphology
- abnormal common myeloid progenitor cell morphology
- abnormal cranial ganglia morphology
- abnormal definitive hematopoiesis
- abnormal dorsal root ganglion morphology
- abnormal facial morphology
- abnormal hematopoietic stem cell morphology
- abnormal hematopoietic stem cell physiology
- abnormal hematopoietic system morphology/development
- abnormal liver development
- abnormal lymphocyte morphology
- abnormal myelopoiesis
- abnormal myoblast differentiation
- abnormal paraxial mesoderm morphology
- abnormal proerythroblast morphology
- abnormal rib development
- abnormal rostral-caudal axis patterning
- abnormal sternum morphology
- abnormal tail position or orientation
- abnormal vertebral arch morphology
- anemia
- big ears
- cervical vertebral fusion
- cervical vertebral transformation
- decreased B cell number
- decreased birth body size
- decreased body size
- decreased body weight
- decreased common myeloid progenitor cell number
- decreased erythrocyte cell number
- decreased fibroblast proliferation
- decreased hematopoietic stem cell number
- decreased hemoglobin content
- decreased rib number
- early cellular replicative senescence
- embryonic lethality before implantation complete penetrance
- embryonic lethality during organogenesis complete penetrance
- embryonic lethality complete penetrance
- enlarged liver
- enlarged spleen
- glossopharyngeal nerve hypoplasia
- hemorrhage
- hunched posture
- increased B cell derived lymphoma incidence
- increased acute promyelocytic leukemia incidence
- increased erythroid progenitor cell number
- increased hemolymphoid system tumor incidence
- increased leukemia incidence
- increased leukocyte cell number
- increased malignant tumor incidence
- increased monocyte cell number
- increased neutrophil cell number
- increased pro-B cell number
- increased spleen neoplasm incidence
- increased sternebra number
- lethality throughout fetal growth and development complete penetrance
- liver hypoplasia
- lumbar vertebral transformation
- lymphoid hyperplasia
- myeloid hyperplasia
- no abnormal phenotype detected
- pale kidney
- perinatal lethality complete penetrance
- perinatal lethality incomplete penetrance
- pointed snout
- postnatal growth retardation
- premature death
- prenatal lethality
- reduced female fertility
- rib fusion
- rough coat
- sacral vertebral transformation
- short face
- short snout
- skin edema
- sternebra fusion
- thoracic vertebral transformation
- thrombocytopenia
- vertebral transformation
role in cell
- phosphorylation in
- apoptosis
- expression in
- proliferation
- self-renewal
- differentiation
- cell death
- neurogenesis
- G1/S phase transition
- colony formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- cytosol
- nucleoplasm
- nuclear scaffolds
- chromatin
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Kmt2a gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein modification process
- exploration behavior
- embryonic hemopoiesis
- post-embryonic development
- negative regulation of methylation-dependent chromatin silencing
- anterior/posterior pattern specification
- spleen development
- visual learning
- positive regulation of transcription from RNA polymerase II promoter
- fibroblast proliferation
- circadian regulation of gene expression
- positive regulation of transcription, DNA-dependent
- negative regulation of fibroblast proliferation
- apoptotic process
- positive regulation of gene expression, epigenetic
- macromolecular complex assembly
- definitive hemopoiesis
- cellular response to transforming growth factor beta stimulus
- T-helper 2 cell differentiation
- homeostasis of number of cells within a tissue
- membrane depolarization
- regulation of short-term neuronal synaptic plasticity
- response to potassium ion
- methylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- histone methyltransferase complex
- cytosol
- nucleoplasm
- MLL1 complex
Molecular Function
What the gene product does at the molecular level
- histone methyltransferase activity (H3-K4 specific)
- identical protein binding
- zinc ion binding
- protein binding
- protein homodimerization activity
- histone acetyl-lysine binding
- AT DNA binding
- unmethylated CpG binding
- chromatin binding